Scriver's OMMBID Blog Headlines

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updated 10441 (Scriver's OMMBID Blog), inserted 7, updated 0, at 2012-05-30 08:19:55

Articles from: Scriver's OMMBID Blog (Scriver'sOMMBIDBlog)

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Extrachromosomal circular DNA: microDNA (more)

2012 04 15

de novo mutations and autism (more)

2012 04 15

Autism (more)

2012 04 12

SLOS and oxidative metabolites (more)

2012 04 01

Barth Syndrome and Neutropenia (more)

2012 04 01

Chapter Updated: Lysosomal Acid Lipase Deficiencies (more)

2012 03 30

Mutations in SWI/SNF complex genes are causing Coffin-Siris syndrome (more)

2012 03 27

Intellectual impairment after long-term NTBC treatment? (more)

2012 03 22

Liver-targeted gene therapy in PKU mice: neurogenic amines & neuropsych fun (more)

2012 03 22

Mutations in histone acetyltransferase KAT6B cause Genitopatellar syndrome. (more)

2012 03 22

Chapter Updated: Lung Cancer (more)

2012 03 02

MNGIE and dCTP (more)

2012 02 29

ERT and adult Pompe disease outcome (more)

2012 02 25

Treatable IEM causing intellectual disability (more)

2012 02 16

Inborn error of tRNA formylation (more)

2012 02 09

Lactate/Pyruvate ratio (more)

2012 02 08

Dietary treatment in Glutaric Aciduria Type I (more)

2012 02 01

New treatments for Angelman syndrome? (more)

2012 01 31

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause F (more)

2012 01 30

Evidence that mutations in EZH2 cause Weaver syndrome (more)

2012 01 24

Glycerol-3-Phosphate Dehydrogenase deficiency (more)

2012 01 13

Hyperekplexia (more)

2012 01 07

MtDNA depletion and elevations in S-adenosylmethionine (more)

2011 12 25

Adenovirus-Associated Virus Vector-Mediated Gene Transfer in Hemophilia B (more)

2011 12 23

Diagnostic Use of Next Generation Sequencing (more)

2011 12 20

Adenosine Kinase Deficiency (more)

2011 12 15

Charcot Marie Tooth 2A (more)

2011 11 29

GFAP mutations, age at onset and clinical subtypes in Alexander disease (more)

2011 11 28

Molecular basis of a combined malonic and methylmalonic aciduria solved by (more)

2011 11 27

Molecular defects in pentosuria identified (more)

2011 11 11

3-methylglutaconic aciduria (more)

2011 11 07

Cysteamine therapy in nephropathic cystinosis (more)

2011 10 12

New disorder of the methionine cycle (more)

2011 10 04

Chapter Revised: Inherited Disorders of Folate and Cobalamin Transport and (more)

2011 09 12

Sudden Bilateral Vision Loss in Methylmalonic Acidemia (more)

2011 09 02

Lysosomal Storage Disorders and calcium handling (more)

2011 08 21

Kufs disease, adult NCL, gene (more)

2011 08 09

Ketolytic Disorders (more)

2011 08 05

Exome sequencing in metabolic genetics (more)

2011 08 05

New Chapter on OMMBID: Vitamin B6 Metabolism and Inborn Errors (more)

2011 07 22

FAOD and oxidative stress (more)

2011 07 21

OMMBID Mark II Archive - Chapter 21.1: Gene Expression Profiling in Cancer (more)

2011 07 19

Defective phosphatidylcholine biosynthesis and muscular dystrophy (more)

2011 07 13

Niemann-Pick disease: recombinant HSP70 +/- recombinant acid sphingomyeli (more)

2011 07 07

neuropsych functions in adults with early treated PKU (more)

2011 06 29

urinary biomarker for response to ERT in Fabry (more)

2011 06 29

Lafora disease and mTOR (more)

2011 06 19

Disorders of selenium metabolism (more)

2011 06 16

Immune deficiency in abetalipoproteinemia (more)

2011 05 20

Mevalonate kinase deficiency (more)

2011 05 19

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